PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels

We report upon PanelDesign, a framework to support the design of diagnostic next generation DNA sequencing panels with epidemiological information. Two publicly available resources, namely Genomics England PanelApp and Orphadata, were combined into a single data set to allow genes in a given NGS pan...

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Autores principales: Schmidtke, Jörg, Philipp, Peter, Rommel, Kathrin, Glaubitz, Ralf, Epplen, Jörg T., Krawczak, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9030971/
https://www.ncbi.nlm.nih.gov/pubmed/35456490
http://dx.doi.org/10.3390/genes13040684
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author Schmidtke, Jörg
Philipp, Peter
Rommel, Kathrin
Glaubitz, Ralf
Epplen, Jörg T.
Krawczak, Michael
author_facet Schmidtke, Jörg
Philipp, Peter
Rommel, Kathrin
Glaubitz, Ralf
Epplen, Jörg T.
Krawczak, Michael
author_sort Schmidtke, Jörg
collection PubMed
description We report upon PanelDesign, a framework to support the design of diagnostic next generation DNA sequencing panels with epidemiological information. Two publicly available resources, namely Genomics England PanelApp and Orphadata, were combined into a single data set to allow genes in a given NGS panel to be ranked according to the frequency of the associated diseases, thereby highlighting potential core genes as defined by the Eurogenetest/ESHG guidelines for diagnostic next generation DNA sequencing. In addition, PanelDesign can be used to evaluate the contribution of different genes to a given disease following ACMG (American College of Medical Genetics) technical standards.
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spelling pubmed-90309712022-04-23 PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels Schmidtke, Jörg Philipp, Peter Rommel, Kathrin Glaubitz, Ralf Epplen, Jörg T. Krawczak, Michael Genes (Basel) Article We report upon PanelDesign, a framework to support the design of diagnostic next generation DNA sequencing panels with epidemiological information. Two publicly available resources, namely Genomics England PanelApp and Orphadata, were combined into a single data set to allow genes in a given NGS panel to be ranked according to the frequency of the associated diseases, thereby highlighting potential core genes as defined by the Eurogenetest/ESHG guidelines for diagnostic next generation DNA sequencing. In addition, PanelDesign can be used to evaluate the contribution of different genes to a given disease following ACMG (American College of Medical Genetics) technical standards. MDPI 2022-04-13 /pmc/articles/PMC9030971/ /pubmed/35456490 http://dx.doi.org/10.3390/genes13040684 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Schmidtke, Jörg
Philipp, Peter
Rommel, Kathrin
Glaubitz, Ralf
Epplen, Jörg T.
Krawczak, Michael
PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels
title PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels
title_full PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels
title_fullStr PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels
title_full_unstemmed PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels
title_short PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels
title_sort paneldesign: integrating epidemiological information into the design of diagnostic ngs gene panels
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9030971/
https://www.ncbi.nlm.nih.gov/pubmed/35456490
http://dx.doi.org/10.3390/genes13040684
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